Tall stature, microcephaly, hypotonia, advanced bone age, and unusual infra-auricular creases.
The patient is a 16-month-old girl with tall stature, hypotonia, unusual facial appearance, acquired microcephaly, advanced bone age without apparent sexual precocity or acromegaly, and symmetric horizontal creases below the earlobes. Her combination of anomalies appears to constitute a previously unreported syndrome.
Stratton
R F
RF
Department of Pediatrics, University of Texas Health Science Center at San Antonio 78284-7809, USA.
D000365:Age Determination by Skeleton; D001827:Body Height / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities*; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008831:Microcephaly / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics*; D013577:Syndrome